Page 47 - Read Online
P. 47
Politei et al. Rare Dis Orphan Drugs J 2024;3:10 https://dx.doi.org/10.20517/rdodj.2023.46 Page 11 of 12
19. Hilz MJ. Evaluation of peripheral and autonomic nerve function in Fabry disease. Acta Paediatr Suppl 2002;91:38-42. DOI PubMed
20. Masotti M, Delprete C, Dothel G, et al. Altered globotriaosylceramide accumulation and mucosal neuronal fiber density in the colon of
the Fabry disease mouse model. Neurogastroenterol Motil 2019;31:e13529. DOI
21. O'Brien JS, Bernett J, Veath ML, Paa D. Lysosomal storage disorders. Diagnosis by ultrastructural examination of skin biopsy
specimens. Arch Neurol 1975;32:592-9. DOI PubMed
22. Sheth KJ, Werlin SL, Freeman ME, Hodach AE. Gastrointestinal structural and function in Fabry’s disease. Am J Gastroenterol
1981;76:246-251. PubMed
23. Flynn DM, Lake BD, Boothby CB, Young EP. Gut lesions in Fabry's disease without a rash. Arch Dis Child 1972;47:26-33. DOI
PubMed PMC
24. Jardine DL, Fitzpatrick MA, Troughton WD, Tie AB. Small bowel ischaemia in Fabry’s disease. J Gastroenterol Hepatol 1994;9:201-
4. DOI PubMed
25. Argoff CE, Barton NW, Brady RO, Ziessman HA. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease:
response to metoclopramide. Nucl Med Commun 1998;19:887-91. DOI PubMed
26. Bar N, Karaa A, Kiser K, Kuo B, Zar-Kessler C. Gastrointestinal sensory neuropathy and dysmotility in Fabry disease: presentations
and effect on patient’s quality of life. Clin Transl Gastroenterol 2023;14:e00633. DOI PubMed PMC
27. Bryan A, Knauft RF, Burns WA. Small bowel perforation in Fabry's disease. Ann Intern Med 1977;86:315-6. DOI PubMed
28. Cristi E, Massari A, Ranalli TV, Gomes VV, Giannakakis K, Feriozzi S. Ileocecal appendix involvement in fabry disease mimicking
an acute abdomen. J Gastrointest Dig Syst 2014;4:239. DOI
29. Kusama M, Kimura K, Koyanagi Y, Tsuchida A, Yoshimatsu A, Ebinara Y. A case report of atypical Fabry’s disease with colon
cancer. Nihon Geka Gakkai Zasshi 1993;94:755-7. PubMed
30. Aguilera-Correa JJ, Madrazo-Clemente P, Martínez-Cuesta MDC, et al. Lyso-Gb3 modulates the gut microbiota and decreases
butyrate production. Sci Rep 2019;9:12010. DOI PubMed PMC
31. Feng Z, Wang T, Dong S, et al. Association between gut dysbiosis and chronic kidney disease: a narrative review of the literature. J Int
Med Res 2021;49:3000605211053276. DOI PubMed PMC
32. Zhao J, Ning X, Liu B, Dong R, Bai M, Sun S. Specific alterations in gut microbiota in patients with chronic kidney disease: an
updated systematic review. Ren Fail 2021;43:102-12. DOI PubMed PMC
33. Delprete C, Rimondini Giorgini R, Lucarini E, et al. Disruption of the microbiota-gut-brain axis is a defining characteristic of the α-
Gal A (-/0) mouse model of Fabry disease. Gut Microbes 2023;15:2256045. DOI PubMed PMC
34. Marchesoni CL, Roa N, Pardal AM, et al. Misdiagnosis in Fabry disease. J Pediatr 2010;156:828-31. DOI
35. Pensabene L, Sestito S, Nicoletti A, Graziano F, Strisciuglio P, Concolino D. Gastrointestinal symptoms of patients with fabry disease.
Gastroenterol Res Pract 2016;2016:9712831. DOI PubMed PMC
36. Shields AL, Lamoureux RE, Taylor F, et al. FABry disease patient-reported outcome-gastroIntestinal (FABPRO-GI): a new Fabry
disease-specific gastrointestinal outcomes instrument. Qual Life Res 2021;30:2983-94. DOI PubMed PMC
37. Eng CM, Guffon N, Wilcox WR, et al; International Collaborative Fabry Disease Study Group. Safety and efficacy of recombinant
human alpha-galactosidase A replacement therapy in Fabry’s disease. N Engl J Med 2001;345:9-16. DOI
38. Schiffmann R, Kopp JB, Austin HA 3rd, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA
2001;285:2743-9. DOI
39. Dehout F, Roland D, Treille de Granseigne S, Guillaume B, Van Maldergem L. Relief of gastrointestinal symptoms under enzyme
replacement therapy in patients with Fabry disease. J Inherit Metab Dis 2004;27:499-505. DOI PubMed
40. Wraith JE, Tylki-Szymanska A, Guffon N, et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an
international, open-label study in pediatric patients with Fabry disease. J Pediatr 2008;152:563-70. DOI
41. Hoffmann B, Schwarz M, Mehta A, Keshav S; Fabry Outcome Survey European Investigators. Gastrointestinal symptoms in 342
patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007;5:1447-53.
DOI PubMed
42. Wanner C, Ortiz A, Wilcox WR, et al. Global reach of over 20 years of experience in the patient-centered Fabry Registry:
advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community. Mol Genet Metab
2023;139:107603. DOI
43. Wilcox WR, Feldt-rasmussen U, Martins AM, et al. Improvement of Fabry disease-related gastrointestinal symptoms in a significant
proportion of female patients treated with agalsidase beta: data from the Fabry Registry. JIMD Rep 2018;38:45-51. DOI PubMed
PMC
44. Hopkin RJ, Feldt-Rasmussen U, Germain DP, et al. Improvement of gastrointestinal symptoms in a significant proportion of male
patients with classic Fabry disease treated with agalsidase beta: a Fabry Registry analysis stratified by phenotype. Mol Genet Metab
Rep 2020;25:100670. DOI PubMed PMC
45. Lenders M, Canaan-Kühl S, Krämer J, et al. Patients with Fabry disease after enzyme replacement therapy dose reduction and switch-
2-year follow-up. J Am Soc Nephrol 2016;27:952-62. DOI PubMed PMC
46. Germain DP, Nicholls K, Giugliani R, et al. Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the
classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind
clinical trial and extension study. Genet Med 2019;21:1987-97. DOI PubMed PMC
47. Schiffmann R, Bichet DG, Jovanovic A, et al. Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker